☰
✕
  1. Mendelian
  2. Rare Disease Genes
  3. NAV2

NAV2 gene related symptoms and diseases

All the information presented here about the NAV2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to NAV2 gene

Symptoms // Phenotype % Cases
Skin rash Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Synovitis Uncommon - Between 30% and 50% cases
Abnormal pericardium morphology Uncommon - Between 30% and 50% cases
Arteritis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NAV2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Glossitis
  • Abnormal oral mucosa morphology
  • Cholecystitis
  • Ascending tubular aorta aneurysm
  • Cheilitis
  • CSF pleocytosis
  • Elevated C-reactive protein level
  • Inflammatory abnormality of the eye

And 67 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NAV2 gene

Here you will find a list of rare diseases related to the NAV2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

KAWASAKI DISEASE

Alternate names

KAWASAKI DISEASE Is also known as kd, infantile polyarteritis, mucocutaneous lymph node syndrome

Description

Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

Most common symptoms of KAWASAKI DISEASE

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema
More info about KAWASAKI DISEASE

SOURCES: OMIM ORPHANET MESH

SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS

Alternate names

SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS Is also known as immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive, stat1 deficiency, autosomal recessive, stat1 deficiency

Description

Susceptibility to viral and mycobacterial infections is a rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.

Most common symptoms of SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS

  • Seizures
  • Respiratory distress
  • Blindness
  • Immunodeficiency
  • Hepatosplenomegaly
More info about SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS

SOURCES: OMIM ORPHANET

Potential gene panels for NAV2 gene

NAV2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NAV2 gene.

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FTO KLLN SIX1 SUFU KIF1A CDHR1 ANXA11